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Biallelic SOX8 Variants Associated With Novel Syndrome With Myopathy, Skeletal Deformities, Intellectual Disability, and Ovarian Dysfunction.
Warman-Chardon J, Hartley T, Marshall AE, McBride A, Couse M, Macdonald W, Mann MRW, Bourque PR, Breiner A, Lochmüller H, Woulfe J, Sampaio ML, Melkus G, Brais B, Dyment DA, Boycott KM, Kernohan K. Warman-Chardon J, et al. Among authors: breiner a. Neurol Genet. 2023 Sep 19;9(5):e200088. doi: 10.1212/NXG.0000000000200088. eCollection 2023 Oct. Neurol Genet. 2023. PMID: 38235364 Free PMC article.
Novel Homozygous Variant in COQ7 in Siblings With Hereditary Motor Neuropathy.
Smith IC, Pileggi CA, Wang Y, Kernohan K, Hartley T, McMillan HJ, Sampaio ML, Melkus G, Woulfe J, Parmar G, Bourque PR, Breiner A, Zwicker J, Pringle CE, Jarinova O, Lochmüller H, Dyment DA, Brais B, Boycott KM; Care4Rare Canada Consortium,; Hekimi S, Harper ME, Warman-Chardon J. Smith IC, et al. Among authors: breiner a. Neurol Genet. 2023 Jan 25;9(1):e200048. doi: 10.1212/NXG.0000000000200048. eCollection 2023 Feb. Neurol Genet. 2023. PMID: 37077559 Free PMC article.
Conduction slowing in diabetic sensorimotor polyneuropathy.
Dunnigan SK, Ebadi H, Breiner A, Katzberg HD, Lovblom LE, Perkins BA, Bril V. Dunnigan SK, et al. Among authors: breiner a. Diabetes Care. 2013 Nov;36(11):3684-90. doi: 10.2337/dc13-0746. Epub 2013 Sep 11. Diabetes Care. 2013. PMID: 24026550 Free PMC article.
93 results